GeneReviews: Expert-authored, peer-reviewed, disease-specific Reviews describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients and families with hereditary disorders

The diagnosis is made using specific criteria including macrosomia, omphalocele, enlarged tongue, and hemihyperplasia. Certain tissues and organs can also become disproportionately large (kidneys, liver). Children with BWS have a 1000-fold increase in risk for the development of embryonal malignancies, most commonly Wilms' tumor and hepatoblastoma. BWS cases are usually sporadic (>85%). Although, BWS is genetically complex, the key imprinted genes implicated in the etiology of BWS and related tumors all map to the 11p15 imprinted region. It should be stressed that in most cases of BWS the molecular changes are either epigenetic or result in epigenetic dysregulation.

Our research on BWS centres on elucidating the basic genetic and epigenetic regulatory mechanisms that control genomic imprinting and how changes or "epimutations" can result in BWS.

More information on these topics is available in the following subsections.